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Fetal anomalies v1.984 | GDF1 | Arina Puzriakova Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.79 | GDF1 | Catherine Snow Classified gene: GDF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.79 | GDF1 | Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.79 | GDF1 | Catherine Snow Gene: gdf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.73 | GDF1 |
Rhiannon Mellis gene: GDF1 was added gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) Review for gene: GDF1 was set to GREEN Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257 Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes) This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel. Sources: Literature, Expert Review |